The use of chromosomal microarray in prenatal diagnosis

Key content The results of prenatal fetal chromosomal analysis may inform long term prognosis. Recent advances in chromosome microarray (CMA) are enabling genome-wide evaluation of submicroscopic chromosomal changes. Such technological advances promise increased sensitivity and specificity. They also potentially pose challenges of interpretation and clinical management. Learning objectives To systematically review the current literature and explain the benefit and pitfalls of CMAs and their relevance to the practising obstetrician in the NHS. Comment on the future of CMA and its cost effectiveness. Ethical issues Difficulties of informed consent with genome-wide prenatal testing. Difficulties surround results of unknown significance.